Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae. Mutations in brief no. 166. Online. (Q50513836)
Jump to navigation
Jump to search
scientific article published in January 1998
Language | Label | Description | Also known as |
---|---|---|---|
English | Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae. Mutations in brief no. 166. Online. |
scientific article published in January 1998 |
Statements
Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae. Mutations in brief no. 166. Online. (English)
1 reference
Feshchenko S
1 reference
Brinckmann J
1 reference
Lehmann HW
1 reference
Koch HG
1 reference
Müller PK
1 reference
Kügler S
1 reference
1 January 1998
1 reference
12
1 reference
2
1 reference
138
1 reference